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      Zimmermann–Laband syndrome-associated hereditary gingival fibromatosis

      case-report

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          Abstract

          Hereditary gingival fibromatosis (HGF) is an uncommon slow-growing fibrous overgrowth characterized by connective tissue accumulation. It presents as an isolated feature or as a manifestation of any syndrome. Various syndromes associated with HGF are inherited by autosomal dominant/recessive/X-linked traits. Zimmermann–Laband syndrome (ZLS) is a rare, autosomal dominant inherited disease manifested with gingival fibromatosis (GF), nose and ears abnormalities, and hypoplastic/dysplastic nails or terminal phalanges of hand and feet. Although the pattern of inheritance was found to be both autosomal dominant and recessive traits, the molecular basis is still unclear. This report presents a possible case of ZLS-associated HGF in a 25-year-old female patient who presents with GF, hypertrichosis, and other syndrome-related features. Her father was similarly affected whereas her mother and sibling were asymptomatic. The patient and her family members were explained about the condition and surgical periodontal therapy was carried out for the patient to improve esthetics and was followed up regularly. Esthetics was significantly improved and no recurrence was noted at the end of 6 months.

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          Most cited references19

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          A new classification scheme for periodontal and peri-implant diseases and conditions - Introduction and key changes from the 1999 classification

          A classification scheme for periodontal and peri-implant diseases and conditions is necessary for clinicians to properly diagnose and treat patients as well as for scientists to investigate etiology, pathogenesis, natural history, and treatment of the diseases and conditions. This paper summarizes the proceedings of the World Workshop on the Classification of Periodontal and Peri-implant Diseases and Conditions. The workshop was co-sponsored by the American Academy of Periodontology (AAP) and the European Federation of Periodontology (EFP) and included expert participants from all over the world. Planning for the conference, which was held in Chicago on November 9 to 11, 2017, began in early 2015. An organizing committee from the AAP and EFP commissioned 19 review papers and four consensus reports covering relevant areas in periodontology and implant dentistry. The authors were charged with updating the 1999 classification of periodontal diseases and conditions and developing a similar scheme for peri-implant diseases and conditions. Reviewers and workgroups were also asked to establish pertinent case definitions and to provide diagnostic criteria to aid clinicians in the use of the new classification. All findings and recommendations of the workshop were agreed to by consensus. This introductory paper presents an overview for the new classification of periodontal and peri-implant diseases and conditions, along with a condensed scheme for each of four workgroup sections, but readers are directed to the pertinent consensus reports and review papers for a thorough discussion of the rationale, criteria, and interpretation of the proposed classification. Changes to the 1999 classification are highlighted and discussed. Although the intent of the workshop was to base classification on the strongest available scientific evidence, lower level evidence and expert opinion were inevitably used whenever sufficient research data were unavailable. The scope of this workshop was to align and update the classification scheme to the current understanding of periodontal and peri-implant diseases and conditions. This introductory overview presents the schematic tables for the new classification of periodontal and peri-implant diseases and conditions and briefly highlights changes made to the 1999 classification. It cannot present the wealth of information included in the reviews, case definition papers, and consensus reports that has guided the development of the new classification, and reference to the consensus and case definition papers is necessary to provide a thorough understanding of its use for either case management or scientific investigation. Therefore, it is strongly recommended that the reader use this overview as an introduction to these subjects. Accessing this publication online will allow the reader to use the links in this overview and the tables to view the source papers (Table 1).
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            Hereditary gingival fibromatosis: a systematic review.

            Generalized gingival enlargement can be caused by a variety of etiological factors. It can be inherited (hereditary gingival fibromatosis [HGF]); associated with other diseases characterizing a syndrome; or induced as a side effect of systemic drugs, such as phenytoin, cyclosporin, or nifedipine. HGF, previously known as elephantiasis gingivae, hereditary gingival hyperplasia, and hypertrophic gingiva, is a genetic disorder characterized by a progressive enlargement of the gingiva. This review will focus on diagnosis, treatment, and control of HGF. The pattern of inheritance, the histopathologic characteristics, and the known biologic and genetic features associated with HGF are also emphasized.
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              Evidence of genetic heterogeneity for hereditary gingival fibromatosis.

              Hereditary Gingival Fibromatosis (HGF) is the most common genetic form of gingival fibromatosis. The condition is most frequently reported to be transmitted as an autosomal-dominant trait, but autosomal-recessive inheritance has also been reported. The clinical presentation of HGF is variable, both in the distribution (number of teeth involved) and in the degree (severity) of expression. It is unknown if the variable clinical expression of HGF in different families is due to variable expression of a common gene mutation, allelic mutations, or non-allelic mutations. The apparently different modes of Mendelian inheritance of HGF suggest genetic heterogeneity. A gene locus for HGF has been localized to a 37-cM genetic interval on chromosome 2p21-p22 (D2S1352, Zmax = 5.10, theta = 0.00) flanked by D2S1788 and D2S441. To evaluate the generality of this linkage, we tested linkage with 9 markers from this candidate region in another large family, segregating for an autosomal-dominant form of generalized HGF, and found no support for linkage with any of these markers. Furthermore, statistical tests of this apparent heterogeneity were highly significant. Analysis of these data provides direct evidence that at least two genetically distinct loci are responsible for autosomal-dominant hereditary gingival fibromatosis.
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                Author and article information

                Journal
                J Indian Soc Periodontol
                J Indian Soc Periodontol
                JISP
                J Indian Soc Periodontol
                Journal of Indian Society of Periodontology
                Wolters Kluwer - Medknow (India )
                0972-124X
                0975-1580
                Nov-Dec 2023
                24 January 2024
                : 27
                : 6
                : 645-650
                Affiliations
                [1] Department of Periodontology, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu, India
                Author notes

                The work belongs to the Department of Periodontology, Tamilnadu Government Dental College and Hospital, Chennai, India

                Address for correspondence: Dr. Kalaiselvan Dharani, Department of Periodontology, Tamil Nadu Government Dental College and Hospital, Chennai - 600 003, Tamil Nadu, India. E-mail: kalaiselvandharani@ 123456gmail.com
                Article
                JISP-27-645
                10.4103/jisp.jisp_582_22
                10906793
                38434504
                2d1eeca5-c5ae-422f-92c2-795156848387
                Copyright: © 2024 Indian Society of Periodontology

                This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

                History
                : 21 December 2022
                : 04 May 2023
                : 26 October 2023
                Categories
                Case Report

                Dentistry
                gingival enlargement,hereditary gingival fibromatosis,syndromic gingival fibromatosis,zimmermann–laband syndrome

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